Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels

P. Ramarao-Milne,O. Kondrashova,A.-M. Patch,K. Nones,L.T. Koufariotis,F. Newell,V. Addala, V. Lakis,O. Holmes,C. Leonard, S. Wood,Q. Xu,P. Mukhopadhyay,M.M. Naeini,D. Steinfort,J.P. Williamson, M. Bint, C. Pahoff,P.T. Nguyen, S. Twaddell

ESMO Open（2022）

引用 5|浏览14

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摘要

•Genome analysis revealed that treatment biomarkers are shared across solid tumours, highlighting repurposing opportunities.•Comprehensive panels detect most known biomarkers; however, WGS detects more biomarkers for treatments in clinical trials.•TMB is well correlated between sequencing methods, but absolute values vary and are dependent on mutation types considered.

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关键词

clinical genomics,whole-genome sequencing,cancer genomics,actionable mutations,tumour mutation burden (TMB),microsatellite instability,precision oncology

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